title: Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
authors.affiliation: Servei de Nefrologia, Hospital Clínic, Villarroel, Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Torra
authors.forename: C
authors.initials: C
authors.lastname: Badenas
authors.forename: B
authors.initials: B
authors.lastname: Peral
authors.forename: A
authors.initials: A
authors.lastname: Darnell
authors.forename: E
authors.initials: E
authors.lastname: Serra
authors.forename: V
authors.initials: V
authors.lastname: Gamble
authors.forename: A E
authors.initials: AE
authors.lastname: Turco
authors.forename: P C
authors.initials: PC
authors.lastname: Harris
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000293:Adolescent; D000328:Adult; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004739:England; D005192:Family Health; D005973:Glutamine; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013030:Spain; D050396:TRPP Cation Channels
chemical_list: D018388:Codon, Terminator; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; D005973:Glutamine; D011506:Proteins; D050396:TRPP Cation Channels; C040836:CTAG-specific type II deoxyribonucleases